Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.

doi:10.1371/journal.pone.0226340

Article

Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.

PloS one - 1 Jan 2020

Cook George W, Benton Michael G, Akerley Wallace, Mayhew George F, Moehlenkamp Cynthia, Raterman Denise, Burgess Daniel L, Rowell William J, Lambert Christine, Eng Kevin, Gu Jenny, Baybayan Primo, Fussell John T, Herbold Heath D, O'Shea John M, Varghese Thomas K, Emerson Lyska L

Abstract excerpt

Structural variation (SV) is typically defined as variation within the human genome that exceeds 50 base pairs (bp). SV may be copy number neutral or it may involve duplications, deletions, and complex rearrangements. Recent studies have shown SV to be associated with many human diseases. However, studies of SV have been challenging due to technological constraints. With the advent of third generation (long-read)...

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